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Episode 76: Angela Papazoglou - IRF2BPL
14 Plays2 days ago
This is the story of Yiannis, nicknamed “Mr. Sunshine”, told by his mother Angela. Yiannis is a 5-year-old boy who lives with the ultra-rare IRF2BPL-related disorder, which has affected his development in many ways. Angela describes the profound ways in which this condition has reshaped their lives, and how hope is their drive to make a difference for Yiannis and other children affected by IRF2BPL.
Angela’s story is one of fierce advocacy and unconditional love. After Yiannis’ diagnosis, she and her husband founded Yellow for Yiannis, a foundation devoted to advancing research into the condition and supporting other families facing similar diagnoses. Angela balances the day-to-day joy of raising her son, with her fight to be heard by the scientific community to find a suitable treatment for Yannis.
Music, especially “Here Comes the Sun” by The Beatles, plays a central role in their lives. Angela naturally selected this song for this episode.
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Transcript
Introduction to Angela and Yanni
00:00:00
Speaker
Hi, I'm Sylvain Bertolo and you're listening to On One Condition, a podcast to raise awareness about health conditions by listening to people who live them every day. My guest today is Angela Papazoglu and we're going to talk about her son Yanni and RIF2 BPL related disorder.
00:00:20
Speaker
Hi Angela, thank you for joining me. Thanks for having me. How are you? I am doing great. How about you? Excellent. Thank you. and It's winter. Winter is here. so Yes. This is staying warm. Yeah. Well, every day that passes, we're one day closer to the next spring. so Absolutely. Cannot wait for the blossoms and everything to start anew. So looking forward to it.
00:00:48
Speaker
So before we talk about your journey and your son's journey, i love starting with a song. So which song did you choose and why? Okay, so for Yanni and our family, we are big Beatles fans. Oh, okay. he loves everything Beatles, but for us, people have given Yanni the nickname Mr. Sunshine.
00:01:12
Speaker
so okay. Here Comes the Sun resonates with us. daily on repeat we we have dance parties to the song you know he sings in his little way the lyrics he just loves the Beatles our whole family has always before I met my husband and myself we've always had a connection to them and then for our son we wanted that to happen but it just happened naturally and He's sunshine, and anytime he comes into the room, I kind of like hum it to myself when he comes in. It's like his little theme song, so it's really quite lovely to witness, and it embodies him. Nice. embodies him quite nicely, yeah.
00:01:57
Speaker
That's lovely. i Yeah, we did too. Too bad we can't take him to go see the lovely band together, but You know, we watch footage, we listen to all of the albums. My husband has them all on vinyl and like the originals. And it's really quite a lovely experience that we have in our home with music.
00:02:19
Speaker
Yeah. I love music. That's why I asked this question. I think many people, if not everyone, has at least one special relationship with at least one song.
00:02:32
Speaker
But talking about Yanni, is it something that's important in his life? Oh, 100% music helps him cope with what's going on with him medically. it also helps him throughout the day. He'll pick a favorite song if he just needs to zone out and like get redirected. And it it's it's an integral part of our day. Like we start the morning off with songs. We start, we're in the car with songs. He'll request songs. Like he's like,
00:03:02
Speaker
A budding DJ, if you will, because he he knows what goes well together. And you know and it's really interesting to see his vocabulary explode explode because he will actually request songs by the artist and like really want to learn about them. So it's like this whole thing.
00:03:18
Speaker
And she's expressed interest in learning an instrument as well. So we'll see what happens. Nice. Nice.
Understanding IRF2BPL Disorder
00:03:25
Speaker
So we'll talk about Yanni himself more.
00:03:29
Speaker
But before that, could you tell us what RIF2BPL-related disorder is, please? Sure. Of course. Yeah, it's a mouthful. I know. Maybe one day we'll have a name for the disorder.
00:03:43
Speaker
Yeah, so basically, IRF2BPL is a gene within all of us. And for Yanni and other individuals and children with this and disorder, it means that their IRF2BPL gene is not per se broken, but not quite functioning correctly. And so for Yanni, the proteins are misallocated and not going where they need to.
00:04:10
Speaker
to his gene And so for that, that means that Yanni and other individuals with this disorder experience motor loss, neurological regressions in the sense of not being able to walk, losing the capability to speak.
00:04:28
Speaker
Losing their capabilities to eat, to be a orally. And so they require having a G-tube place to be able to receive nutrition. Also, it encompasses seizures. Like it's a whole sh slew of very not so fun symptoms all caused because of this gene malfunctioning. So it's, it's, it's really tricky one but most children suffer from seizures, have delays, have to work much harder to be able to do day-to-day things with therapies and different modalities and whatnot. So it
00:05:08
Speaker
Some start on the more severe end. Like for our son, Yanni, he's in the middle at the moment. And he's had various struggles with the symptoms. It's a spectrum, but it will progressively get worse.
00:05:22
Speaker
And so for us, knowing that we take every day, hour by hour, and just help him as best as we can because we don't know the day or when things will happen.
00:05:37
Speaker
regress to a point of where bigger interventions will be needed. okay Do you know why? What causes the progression? We're gradually having more families...
00:05:51
Speaker
and patients speak out and having our natural history study compiled. But what we know thus far, because this is super ultra rare, that for females, for girls, ah generally the regressions really pick up around the time of puberty is what we've noticed. And then for males, boys that typically around six, seven years of age is when the decline increases.
00:06:17
Speaker
happens And so that is what we've observed. Don't hold me to it because like, it's not like, but this is like our hypothesis and what we see at the moment. I mean, clearly that can change when more data comes in and more individuals and families are more apt to understand.
00:06:35
Speaker
share with the team that is working on hopefully developing something to mitigate the regressions or prolong the quality of life that our magical children possess.
00:06:48
Speaker
So we're working on it. How old is Yanni?
Yanni's Medical Journey and Speech Development
00:06:52
Speaker
Yanni just turned five in July. okay I want to talk more about Yanni himself, but before we we talk about his quality of life, there's something that intrigues me. You said that his speech is impacted, but then you also said that he requests songs. So how does he do that?
00:07:11
Speaker
Okay, so he did not was not able to speak vocally until he was three and a half years old. Okay. And so we worked since he was a little over a year old um with a very wonderful speech therapist.
00:07:30
Speaker
And to that point, he wasn't even crying Or emoting or anything like that. Okay. So physically we found out that a lot of things internally were very enlarged, causing him not to be able to get sound out.
00:07:48
Speaker
Oh, okay. Okay. When he was in the NICU, he would not cry. He's a newborn. He would think he would cry. wasn't able to. And so for us, that was part of the diagnostic journey and everything that we found this amazing ENT that was able to help us navigate this because like we're like is he deaf like because that's also a component of this disorder like what is happening because like he's we could see him trying to make noise yeah but it just wouldn't populate and so it was really really upsetting but yeah so like i said he didn't speak into verbally we had asl because like myself and my husband english is not our first language and so we we had always dreamt of teaching him our native language
00:08:37
Speaker
Korean and Greek. But um with all of these issues, we ended up all learning sign language and trying to incorporate that for Yanni to help him be able to communicate with us and so for us to meet his needs. But so long story short,
00:08:55
Speaker
they found once they in surgery that his adenoids and his tonsils were so huge, like, and they were just blocking everything. And that was also causing them to have feeding problems, like with the scopes and everything in the scans.
00:09:11
Speaker
What they were seeing was just the hip of the iceberg. And then once those organs were removed, slowly he started having sound. It was the most amazing, beautiful thing.
00:09:23
Speaker
But also, I mean, clearly he still needs speech therapy and everything because, like, he is behind. yeah and that's part of this disorder. But now he can actually do this. And so it was it's really beautiful to see and to hear, you know, our son say that he loves us. And, that you know, says, here comes the son.
00:09:42
Speaker
Your heart explodes. It's something that... We don't take for granted. um Had we not pursued like further investigation, he wouldn't have had his voice.
00:09:53
Speaker
And I can't fathom that. But for us, we want to do what's best by him. And so whatever we can do to help his quality of life, that is what we will do.
00:10:07
Speaker
We are grateful for medicine and science to be able to get us to this point. But we also know that one day, six weeks from now, six months from now, we don't know that these things will all go backwards due to this gene that neither of us have, which is also odd. I mean, i wish I had it so then I could have hope that our son would thrive, but yeah we don't. We've done whole slew of exomes and biopsies to
00:10:41
Speaker
quadruple check that this is actually what is happening. And, you know, we always say we're horrified at the findings, but grateful for answers. Yeah. Yeah.
Yanni's Daily Life and School Support
00:10:52
Speaker
So could you tell us a bit more about what what a day, normal day for Yanni is and how much support that does he need?
00:11:02
Speaker
Sure. Absolutely. So the only thing Yanni has ever been above average is is sleep. Which, I mean, I laugh because people would be very upset with us for not having an in more clinical things and more therapies. But, like, I'm like, I am not going to wake him up because, like, it's obvious his body needs to sleep. Like, and for him to be above average in something and actually average and, like, slightly above, like, we were very excited. So for us, our morning starts with us actually having to go wake him up.
00:11:39
Speaker
Usually um the alarm clock's playing, here comes the sun or something. And usually I have to pick them up. and And so I pick them up and then like, we like, you know, boogie a little bit.
00:11:50
Speaker
And then, you know, we go brush teeth. I have to brush his teeth and try to get him to use the bathroom. we've We've been able to successfully do that during the day. at night, it's still problematic, but we're working on it. But, you know, we don't want to push him because he's already come so far.
00:12:11
Speaker
And so we do that and then we put on clothes. He is a budding fashionista. He tends to like to pick out his clothes now, which is really kind of exciting to see that evolve.
00:12:25
Speaker
And that's been really quite fun to witness. And so then we proceed to have breakfast. Any type of eggs. He loves eggs.
00:12:36
Speaker
Any kind of egg. yeah Fluffy eggs, an omelet, any any kind of egg he will enjoy, or oatmeal, that that's his go-to. It's easiest to feed him in the morning when he's able to eat the most.
00:12:52
Speaker
So he eats and then right now he is doing school. And so we maybe watch a little television, but that's very rare. And then we go to school and at school, he has a lovely aide.
00:13:10
Speaker
Not with him 100% of the day right now, but she meets us and gets him out of our car and and takes him into school.
00:13:20
Speaker
they go They go in together. And so she's in the classroom with him all day, but not specifically with him all day. And so she helps him navigate school. Does he go to state school or is it a special school?
00:13:35
Speaker
Right now it is it's it is state public school. He was in private prior. Mm-hmm. We do recognize that this is a very small window for us to try this.
00:13:46
Speaker
It's a big experiment for us. And we do have backup schools on the ready for when we do need to go back to ah higher level of Assistance and moility like majority it's like mobility because like our public school is not really equipped for a wheelchair or any of that. It is some degree. It has to be legally, but like it's not what you would hope for your child. Yeah.
00:14:15
Speaker
Yeah, so right now on Bated Breath, we're trying this. There's only 15 children in his classroom. They're four adults always.
00:14:26
Speaker
Yeah, so the ratio's rather good for the situation. then he also... has his different therapies throughout the day there like speech and ot and physical therapy and all of that is incorporated into his day wow that's good but we also do things on the side outside of the school day as well because he does require more than what they're able to offer at school but yeah
00:14:59
Speaker
Yeah, so he's been really trying to enjoy that. It's very different from his private school, but a lot of his peers from our community attend this school, so we thought we'd give it a try. Yeah.
00:15:14
Speaker
And so the school day is from... 8 30 a.m to 3 30 p.m which is the longest day for him outside of like clinical things that he's ever done in his five years of life when he comes home when we we pick him up he will he he for some reason he doesn't want to ride the bus and we're okay with that but like We thought maybe it'd be fun for him because he loves like all modes of transportation. So like, are sure you don't want to ride the bus?
00:15:47
Speaker
But like, he doesn't to ride the bus. And we're like, okay. So we pick him up at three 30 and then he has, we try not to make it all clinical, but usually it's like more physical therapy or hippotherapy, something else.
00:16:07
Speaker
to compliment what he's receiving at school. Okay.
Dance Class and Creative Expression
00:16:11
Speaker
Or it might be physician's appointment or something. But like recently he's really circling back to the whole music thing. He's really expressed love and dance.
00:16:23
Speaker
And so he is in a special needs dance class, which has been amazing. phenomenal and he's making more friends which with having irf to bpl um in his delays it's been hard for him to make friends because his peers are they're at age level of like communication and other things and yanni slightly well he's several years behind and so the kids are
00:16:53
Speaker
get frustrated with him because they're like, well, what are you trying to say? yeah so it's nice to see him really blossom at his special needs dance school. It's it's really a beautiful thing that this instructor is doing for children like mine and the fellow families that are in the class with us.
00:17:12
Speaker
It's really, really wonderful and... I presume competency for Yanni and as much as possible, but to see him actually listening to the instructor and being able to do these dance moves, it it's next level. It's like the coolest thing.
00:17:29
Speaker
And so really takes the time to understand what's happening to them and modify things for their ability. So it's really, really sweet that we have this resource in our, in our community. Yeah.
00:17:43
Speaker
Yeah, that's amazing. and And dance, it's such a nice way of of expressing without having rules necessarily associated to it. So i imagine they must be freeing Absolutely. While he can still utilize his body, like we are soaking it in and he just wants to and just show us what's inside of him. You know, it's, it's really remarkable. And the instructor, I, I'm just so grateful that we found her and.
00:18:16
Speaker
but She didn't have this program. It was us, myself, and several other rare mothers that banded together. And then she took it on swimmingly and wanted to help our children. was really beautiful that this all came together.
00:18:29
Speaker
So we try to keep things non-clinical in those ways, but some days you can't avoid it. We tend not to disclose too much to him because he is a bit of an anxious child. Okay.
00:18:43
Speaker
Illuminate on things and it'll just get him upset. Mm hmm. Like, for instance, we know with this procedure, there'll be, you know, shots and there's going to be some pain and this isn't this. So, like, we have to choose our words carefully expose what's going to happen.
00:19:00
Speaker
But, you know, he's getting to the point where he's it's great to see cognition and like curiosity. happening and occurring and that he's able to express that but like it's also brings on the can of worms of anxiety and yeah being scared and like which is totally normal but like we want to limit that as much as possible because unfortunately in this rare life there's a lot of instances of that and we don't want to perpetuate that and for him to have like medical trauma and like
00:19:32
Speaker
have fear and having to go to the appointments and stuff. And thankfully right now we're at a place where he isn't fundamentally afraid to go to his appointments, which took a long time to get to, but he knows that he recognizes that his team isn't trying to hurt him or do anything. They're trying to help him.
00:19:54
Speaker
yeah um For a five year old, I think that's very, very deep. And I can't believe that we had to help him become that way because like some adults aren't even that way. And like, I'm a five year old, a medically complex five year old. It's, it's, it's wild.
00:20:11
Speaker
So, you know, we try to balance the clinical with the non-clinical and have as much fun as we can. And then, you know, after all of those things, you know, it's already seven o'clock. And so then it's,
00:20:23
Speaker
dinner, meds, bath, and bed, rinse, wash with heat. So, you know, I mean, he can't dress himself. He can't do several other things. So it's literally myself navigating the physicalities of him being able to do things.
00:20:45
Speaker
And then also, you know, maintaining the house, marriage, everything, you know, it adds up. But, it you know, my My number one is helping Yanni being there every step of the way to help him navigate and then just thrive.
00:21:01
Speaker
Yeah, yeah. It's great that he has school and he's able to attend school. But yeah, it must be frustrating to have to do all the medical stuff outside of school as well because...
00:21:17
Speaker
Children age need time to to rest after school. It's quite intense days. Absolutely. He's been vocalizing that now quite a bit, to be honest. And kids are overscheduled these days and we try
Inspiration and Resilience
00:21:33
Speaker
not to do that for him. But like, I mean, we can't skip out on therapies and we can't skip out on those appointments.
00:21:38
Speaker
and like we try to leave the weekends open as much as possible but sometimes it's just not possibilities so like we're trying to make this balance but you know through this all like he does remain mr sunshine and have a smile on his face like it i couldn't do it like you know i'm in awe of him daily that you know he still has a smile on his face and he's not mad at the whole world and like you know it's i I learned so much from him.
00:22:09
Speaker
And i you know, people say it's a reflection of you as a parent, but like, you know, he inspires me daily and i wish I could take it all from him and that he didn't have to experience all of this. And and I'm doing my best to make that happen.
00:22:25
Speaker
He's just magic personified. Everybody that he's met I don't even say anything. they They say this to me and my husband, Christopher. And I just don't understand how a child so special and magical could have carried this on his shoulders. you know it's just It's just not fair.
00:22:45
Speaker
but you know i I'm doing everything in my power to change his trajectory. so Well, and and he must have amazing parents to to also...
Foundation and Community Support
00:22:56
Speaker
be able to take it all in so i'm i'm sure there's a lot on you there we're doing our best so you started a foundation correct yes called yellow for yanni what led you to start that foundation and what what were you trying to achieve Sure. I mean, we're still trying to achieve.
00:23:20
Speaker
It's never ending, as you know, in this world, and especially in the rare and the scientific industry. it's not It's ongoing. There's never really a stopgap in any of this. But like for us, as soon as Yanni got diagnosed,
00:23:37
Speaker
We gave ourselves like 48 hours to grieve and try to mobilize and figure out, okay, what's next? What do we do? Learn as much as we could. And so when Yana got diagnosed, there was literally maybe four publications in PubMed regarding his disorder, period, and stopped.
00:23:54
Speaker
I'm like, well, that's a problem. And so we were like, okay, what talking to other rare families that we knew in passing, but now, you know, we're more intimately involved because and like now we know more, but we reached out to them. We reached out to all of our connections and we're like, so now what?
00:24:15
Speaker
And so found that found out that Gene therapy would probably be the best contender for Yanni's condition.
00:24:26
Speaker
But we knew that we couldn't, and we didn't want to, nor do we still only want to do it for him. We want to help as many folks as we can. okay And so that's when Yellow for Yanni came to be because we knew That once we crack a viable treatment for IRF to BPL, that even if it doesn't work for Yanni, we still want it to work for someone else.
00:24:54
Speaker
We're in this life and we don't want other children and families to suffer in ways that we have. And for us to do this, we realized that it would unfortunately take a lot of money.
00:25:07
Speaker
And we have means, but not close to a billion dollars. And so like all said and done, because like we're starting from scratch. Like we, we have funded our mice models. Like, and we don't really even have a knockout mouse yet. Like it's, people don't realize the expense and the minds and the time that goes into developing anything, let alone gene therapy, which is cutting edge medicine. and So for us, like, even if we liquidated everything, all of our assets that wouldn't come close to the amount of money
00:25:49
Speaker
that is required to achieve this. Not only Yanni, but for the known cases that we know of, of IRF2PPL. I'm sure there are many more. And so for us, like we are focusing on providing whole axiom sequencing at zero cost.
00:26:06
Speaker
If you exhibit these symptoms, like if, if you want to learn more, if you want, like, I mean, I would never wish IRF2PPL on anybody, but like, if you want to dig deeper and help your child,
00:26:19
Speaker
Maybe you should find out, you know, like we can't enforce anybody. And, you know, some people have adamantly told us they would rather not know. And, you know, that's their decision. But for us, knowledge is power. And for us, we want to do the best we can for him and the others.
00:26:36
Speaker
Yanni's name may be in the foundation, but that doesn't mean we're not working for everybody. And that is what we are doing day in and out. I quit my job to do this full time to be on as caregiver and then to also facilitate all the communications and helping families that are newly diagnosed, bridging the gap because it's scary when you get a diagnosis such as this and there aren't any um much information or anything around and so we're doing the best we can and that's how that came to be and it's hard in these times economically globally I would say so do you do fundraising then to finance the research that you're you're trying to push essentially yeah absolutely um we do all sorts of fundraising initiatives and then we also have
00:27:34
Speaker
won several grants that have kept us going.
Challenges in Fundraising and Research
00:27:38
Speaker
So I've learned how to become a grant writer and like all these things that I didn't think I, you know, they're not on my resume before, but now there here we are.
00:27:47
Speaker
And so we do various fundraising efforts and initiatives and are um working on a bigger foray into the world because literally right it's literally dollar by dollar.
00:28:01
Speaker
Yeah. But we recognize the times we are living in right now and we cognizant of that. And we know, you know, people should be taking care of their families first. So we try to be as diplomatic as possible, but like, it's also difficult when we're under a ticking time, you know, the clock is always ticking and um We've already lost children to this disorder and not us, but like, you know, as our disorder community. And so it's like, you know, we want to honor them. Like we want to do something.
00:28:38
Speaker
Even if it's just drug repurposing something, it doesn't have to be, you know, full blown gene therapy, just something to hopefully mitigate the regressions and even if just slow them down to buy us some time yeah find the right vector, to find the right,
00:28:55
Speaker
administration like just this there's so many things that go into this that the general public doesn't understand even folks in our disorder community doesn't understand some of them think it's like a one size fits all solution and it's not and it so it's it's it's you know 80 fundraising 20 educating and then you know it's the rat but you know that's already 100 but like There's also everything else in between, like communicating with the team. And there's so many things that go into this, but I wouldn't trade it because like, if I don't do it, who will?
00:29:31
Speaker
Yeah. What people don't realize there is that it's a full-time job. It's not organizing a bake sale. It's only. Yeah. No, it's much more involved than that.
00:29:43
Speaker
And it's difficult to get the scientific community's backing as well because raising money is one thing, but then you need to find people who can spend time in that, who are willing to spend time doing that. Yeah.
00:29:57
Speaker
Absolutely. And the right people that are actually invested in your disorder. Because like in our early aughts, we were very blessed in finding some brilliant humans.
00:30:11
Speaker
But at the time, they were only focused on them inflammatory disorders. so This is not inflammatory. And so they're like, we want to help you. And I'm like, I was like in meetings with them.
00:30:22
Speaker
But how much if I pay you right now? Can you deviate and like, please help us? I was like, zero shame because I was like, please, please.
00:30:33
Speaker
Like, and but, you know, with their institution and whatnot, there's so much bureaucracy and red tape and just the other components that are out of my their control as well.
00:30:45
Speaker
yeah And so then then it's like, do we outsource? Do we go overseas? What do we do? do i Do I open my own lab? Like, these are all questions that come up, you know, that we talk our board and like, but then you don't want to artificially fast track things. And then God forbid, something goes awry. so There's also that component too. So then you have to trust in the process and allocate the fundraising money towards this and trust that this is going to happen.
00:31:18
Speaker
It's really overwhelming, but also beautiful because the team that we have assembled are amazing and we don't take them for granted at all. And we're very grateful and through them, we've won ah grant that is but facilitating research right now and we are fundraising to top that off to continue the foundation that they're doing so it's really a beautiful thing that we have them in our corner so yeah but it you're right it's a full-time and then some job I find it extremely inspiring listening to you and and knowing how much you do because i work in clinical trials I know
00:32:02
Speaker
how difficult it is. and And the clinical trials I work are all funded by biotech companies, pharma companies.
00:32:12
Speaker
So knowing that you do the funding yourself, that you go and look for the right researchers and so on, it's incredible. I don't think people can really grasp the amount of work that it involves.
00:32:26
Speaker
I admire what you do, really. Thank you, friend. Thank you for acknowledging that because you're right. Like, I mean, biotech, hear us if you think if you're interested in counseling us, let us know.
00:32:39
Speaker
But i mean even with that, you know, there's also red tape. So like, it's just, you know, I can't stop and I won't stop. it's It's hard. And I just don't want Yanni and fellow children with IRF to be able to lose their zeal and their life. And That is our driving factor. And, like, God forbid, Yanni passes away, we're still going to continue our fight in progressing a treatment for RF2BPL because no family should endure this.
00:33:10
Speaker
and it It's not right. It's not fair. And I wish ah wish like I could do it all. and And I mean, even my husband's like, you need to take a break.
00:33:22
Speaker
But I'm like, I can't. There's no way. And because like even like, you know, Yanni, Yanni in various ways, new symptoms are popping up right and left. And and like nothing's linear with this child.
00:33:36
Speaker
He's an enigma. He's already confused his medical team in various ways. But we're also like writing the guidebook on this disorder because like we have very few participants and you know our study, our natural history study, and light tracking...
Exploring Treatment Options
00:33:57
Speaker
what's happening with their children so like it's just it's just been very interesting but like so like we're just trying to discern if like this is all irf2bpl related or if maybe yanni might have something else going on but like you know our sole focus is irf2bpl yeah yeah do you only consider gene therapy or do you also look at like drug repurposing for example oh yeah no we're not leaving any stone unturned yeah There's no way.
00:34:24
Speaker
Drug repurposing would be very ideal because that could be a very low cost, high reward situation. yeah But like getting access for like compassionate care and whatnot for drugs here in the States, at least is not simple. Okay.
00:34:43
Speaker
we have worked with a startup to see what might work. And so we're trying to see. And then once...
00:34:56
Speaker
We see if these medications may be beneficial. You know, it's it's a balancing act of expectations versus reality. And like we don't want to over promise.
00:35:09
Speaker
And then things might not like meet expectations. So like it's a fine line. But there are medications out there that may help.
00:35:21
Speaker
we just need to make sure before that is announced. And then of course, yellow for Yanni will help families obtain these medications and help them get access to these via compassionate care and whatnot. So like, yeah, of course we are working on that day in and out, you know, but also there's also obviously very, there's risks involved with that as well. Cause like, I mean, it's like, like for instance, this is just hypothetical, like, but like throwing out like,
00:35:51
Speaker
like a cancer drug, like a chemo, like, do you really want to dose your child with like chemotherapy? But I'm like, you know, it's all very and tricky to navigate, but like, yes, we're looking at drug repurposing. We're looking at gene therapy. We're looking at, um I mean, my hope is CRISPR, but I know that's very much later down the line and just, you know,
00:36:12
Speaker
just closing in that little tiny fragmented gap of his RF2BPL gene and then calling it a day. But obviously that's next, next, next level. But like we are pursuing all of as many avenues as we can.
00:36:30
Speaker
It's daunting. It's a lot. And, you know, we also don't want to mess up. There's a lot riding on our shoulders. But we're doing what we can and we're not stopping.
00:36:42
Speaker
it's It's an arduous path, but we are taking it in stride and doing what we can. Yeah. So going back to the fact that it's progressive and that...
00:36:58
Speaker
Like you said, that it could be six weeks or six months until Yanni starts experiencing regression. How do you manage the uncertainty?
Coping with Uncertainty
00:37:13
Speaker
Oh, that's a big one. and So for us, we literally take it hour by hour. The good, bad and the ugly. You know, he is a child.
00:37:25
Speaker
And so now it's interesting. Now we're experiencing the tantrums that we probably would have experienced three years ago if we had a typical child.
00:37:37
Speaker
so um for us, we take it all with a grain of salt. And, you know, we just love him and we read with him and we listen to music and we just embody it all all because we know and the blink of,
00:37:55
Speaker
and i And I'm sure other like parents of not rare zebra children have these moments where, you know, because we've weve we've been told, you know, well, but you could be hit by a tree tomorrow or something. But it's like, it's next level thinking this and like really not taking anything for granted and enjoying every moment, even the difficult moments. Like,
00:38:21
Speaker
embracing it and like, you know, my husband makes fun of me, but like my camera roll on my phone is like, you know, hundreds of thousands of photos, but like, I literally don't want to miss anything when he like gets into another side of pants, size of pants. Like that's a huge milestone for me because like for so long he was so small because he couldn't like, like calories were just going in and out of him. Like he couldn't gain weight and like grow. And then that was like a whole thing. And like, it's like,
00:38:51
Speaker
I cherish those moments because it's not only his childhood, it's our parenthood journey as well. We know what lies ahead, but that only forces me work harder and faster and be stronger for him and the other families. Because like, you know, we're in we're in New York, but like we have families all over the globe.
00:39:14
Speaker
I'm on call, if you will, for these other families. like So say a family in Spain reaches out to me in the middle of the night. I'll write them back. Families out West, I'll write them back.
00:39:27
Speaker
I don't want anybody else to feel alone in this because and the early aughts, we felt very alone and isolated. And like some of our friends didn't know what to do. And like, I don't blame them. I wouldn't know what to do if I wasn't thrust into this world. But like we've, we work with a palliative hospice team with Yanni Right now we just check in like every six months, but it's also, you know, people are so scared of the word hospice and palliative, yeah but like, it doesn't mean he's going to pass away tomorrow.
00:39:57
Speaker
It's just more eyes and helping us coach and like be coached and what to expect. Because, you know, now like sometimes Yanni will ask like, why does my leg not work like this? Or like, why do, why does this happen? Like, why did I have to be in the hospital for this?
00:40:14
Speaker
Yeah. And so it helps us to navigate those questions and help him to understand because like he how how could you expect a five year old to understand what this is?
00:40:25
Speaker
Adults don't even understand what this is. And so for us, you know, we break it down into child terms that he can understand. But like, of course, you know, balancing that we don't want to overwhelm him.
00:40:36
Speaker
But yeah, we just, we just trudge through and do the best we can and hopefully make some scientific breakthroughs. And even if it's not even for IRF2BPL, if something that we come up with can help like SYNGAP or like, you know, like, so be it, like help.
00:40:56
Speaker
So like, that's why i go to a lot of the conferences and all of the scientific consortiums and like all this, all of these, because like, If we crack one, maybe we can crack another, you know? And so it's just like collaboration is what we aim and strive for because like we can't just be doing this alone.
00:41:14
Speaker
No, no, no, no. I completely agree with that. Yeah. Community is very important. Vital. Yeah. I have one last question for you. Sure.
Joy at Disney World
00:41:28
Speaker
And you choose if you answer that for Yanni or for yourself. What is your or his happy place? A place where you feel at peace.
00:41:41
Speaker
If you ask my husband, it's the ocean. If you ask me, it it used to be in an airplane, like just like taking off and, you know, not being on the internet, being unavailable for a little bit.
00:41:56
Speaker
But if you ask Yanni, it's Disney World. all and It's Mickey Mouse. It's... it's all of that because they're medically complex children people don't bat an eye like if yanni stims if yanni needs meds or anything there nobody cares nobody stares if like he if he can't like gets fatigued and needs his wheelchair like nobody cares and they're so accommodating for children like ours
00:42:30
Speaker
I used to work for them. So like we are very lucky that we still get in for free. And so Yanni has been multiple times, many times, more than most children probably would ever go. But he's been to Paris Disney and he really wants to go to Hong Kong Disney next.
00:42:49
Speaker
So, and a Disney cruise. So we're trying to make all of these happen, but like, he feels the most like relaxed and strong there.
00:43:00
Speaker
And like he, like we take friends sometimes with us and they're like, he needs to get a job here. Cause he knows so much where he's going. He knows where to get food. He knows where to go to the bathroom.
00:43:13
Speaker
And like, we've, we've taken other rare families as well. And like, they see that our children are like cared and nurtured for there. And it's really a magical place. And like, you know, all of our holiday cards have our pictures from Disney in it.
00:43:26
Speaker
People give us attitude about taking him there a lot, but it's like, I earned these perks from working for them for many, many years. Like, and also like we have travel benefits and like,
00:43:38
Speaker
if if this would make your child happy, like why wouldn't you do it? Yeah. And it's, in it's and it's, and like, quite frankly, it's cheaper for us to be in Florida or California than it is for us to be in our home than it is to be there and doing something that like he cognitively, physically, viscerally on every level brings him joy.
00:44:05
Speaker
Like how can I refuse that from him? and been a very special place for our family. It's always been a special place, but like on next level, seeing how he's treated there and accepted because in a world that isn't catered to neurodivergent and disabled people, especially children, it can be very harsh.
00:44:31
Speaker
wow Amazing. I write notes and the words I've written are sunshine. And I love that you refer to him as Mr. Sunshine. That's beautiful.
00:44:46
Speaker
But then i've I've written love because there's so much love that... emanates from you when when you talk about Yanni but also when you talk about what you do for him and for the community and and I think you said multiple times that you do the best you can at but it's it's absolutely incredible what you're doing I just wish you all the best and I'm sure you'll carry on as you as you've done and that you'll get somewhere
00:45:21
Speaker
Let's manifest this and hopefully it all comes together. And I have i know that it will. It's just trusting the process and brilliant minds such as yourselves.
00:45:31
Speaker
Thank you very much.